Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

BACKGROUND: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Ja...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Ital J Pediatr
Main Authors: Vannelli, Silvia, Buganza, Raffaele, Runfola, Federica, Mussinatto, Ilaria, Andreacchio, Antonio, de Sanctis, Luisa
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216375/
https://ncbi.nlm.nih.gov/pubmed/32393377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-0813-9
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